Clinical and biological progress over 50 years in Rett syndrome
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
MECP2 disorders: from the clinic to mice and back
LM Lombardi, SA Baker… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …
Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic
analog of glycine–proline–glutamate, the N-terminal tripeptide of the insulin-like growth …
analog of glycine–proline–glutamate, the N-terminal tripeptide of the insulin-like growth …
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
DG Glaze, JL Neul, WE Kaufmann, E Berry-Kravis… - Neurology, 2019 - AAN Enterprises
Objective To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate
its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating …
its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating …
[HTML][HTML] Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
Introduction Rett syndrome (RTT) is a debilitating neurodevelopmental disorder with no
approved treatments. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N …
approved treatments. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N …
What's wrong with my mouse model?: Advances and strategies in animal modeling of anxiety and depression
AV Kalueff, M Wheaton, DL Murphy - Behavioural brain research, 2007 - Elsevier
Stress plays a key role in pathogenesis of anxiety and depression. Animal models of these
disorders are widely used in behavioral neuroscience to explore stress-evoked brain …
disorders are widely used in behavioral neuroscience to explore stress-evoked brain …
Rett syndrome: a genetic update and clinical review focusing on comorbidities
WA Gold, R Krishnarajy, C Ellaway… - ACS chemical …, 2018 - ACS Publications
Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females
resulting in severe cognitive and physical disabilities. Despite the commendable collective …
resulting in severe cognitive and physical disabilities. Despite the commendable collective …
Developmental delay in Rett syndrome: data from the natural history study
JL Neul, JB Lane, HS Lee, S Geerts, JO Barrish… - Journal of …, 2014 - Springer
Background Early development appears normal in Rett syndrome (OMIM# 312750) and may
be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History …
be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History …
Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome
Over 90% of Rett syndrome (RTT) cases have a mutation in the X-linked gene encoding
methyl CpG binding-protein 2 (MeCP2). A mouse model that reprises clinical manifestations …
methyl CpG binding-protein 2 (MeCP2). A mouse model that reprises clinical manifestations …
Social impairments in Rett syndrome: characteristics and relationship with clinical severity
Background While behavioural abnormalities are fundamental features of Rett syndrome
(RTT), few studies have examined the RTT behavioural phenotype. Most of these reports …
(RTT), few studies have examined the RTT behavioural phenotype. Most of these reports …